(Editor’s note: For Rare Disease Day, WebMD is featuring four personal stories from people living with rare diseases.)
By Jennifer Clopton
WebMD Health News
Theresa Strong, Ph.D, of Birmingham, AL, is Director of Research Programs for the Foundation for Prader-Willi Research and also has a son, Daniel, with that rare condition.
Tell us about your son’s condition.
My son Daniel, now 22, was diagnosed with Prader-Willi syndrome (PWS) when he was two months old. This genetic disorder is caused by deletion or inactivation of a part of chromosome 15 and occurs spontaneously in 1 in every 15,000 births.
PWS is characterized by a number of issues including hormonal imbalances, behavioral problems, intellectual disabilities, sleep abnormalities and obesity.
Babies have feeding difficulties and then sometime during their childhood undergo a switch to an insatiable appetite, which can lead to obesity.
The underlying reason for the extreme hunger in PWS is not fully understood. There are drugs in development to try to reduce the hunger, but for now the only way to control weight is by strictly controlling the environment and providing a healthy diet.
What was your life like when your child was first diagnosed?
Daniel has a twin brother who does not have PWS and it was clear early on that something was different with Daniel. He was weaker, very sleepy, and didn’t feed well.
But his drive for food didn’t really become a problem until his teenage years so his childhood was relatively normal. He had some developmental delays and we had lots of medical appointments, but it was actually much easier than what I had imagined.
As his hunger has increased, the impact on the family has been significant. All food is locked up in our house. We have a keyed entry to the pantry and a lock on the refrigerator, and we never leave food out. We prepare plates at home for meals and don’t go out very much.
What is life like now for him and your family?
PWS is definitely challenging, but Daniel is doing well overall. Individuals with PWS have to be supervised, since they can overeat to the point of rupturing their stomach. So while Daniel is a pretty smart young man who wants to be independent, he can’t be right now.
He lives at home and we are working to help him find his place in life, the right work situation, a good social life, and the right support.
We helped establish a research foundation 14 years ago to support the development of new treatments for PWS, including drugs to control hunger. If Daniel could regulate his appetite, it would open a lot of doors for him.
What would you tell someone who is newly diagnosed with a rare disease?
It’s a marathon, so pace yourself and try not to be overwhelmed by all the possible problems that could develop.
Focus on the child in front of you. Your child will bring so much joy into your life and there will be a lot of good times, so keep your attention on the present and do your best not to worry about the future.
And reach out and find other families who have the same diagnosis – they will be an amazing source of strength for you.
Finally, when you’re ready, it’s great to give back to your community in some way. I’ve found it very therapeutic to try to do something positive in response to this challenging disorder.
Read other stories about people with rare diseases:
- Christopher Anselmo, Miyoshi Myopathy
- Alani Daniels, congenital generalized lipodystrophy
- Gin Jones, X-Linked Hypophosphatemia or XLH
These stories were developed through a collaboration of WebMD and NORD. For more information on rare diseases, please visit: https://rarediseases.org/
For Instagram profiles of doctors who are tackling rare diseases from WebMD’s sister site, Medscape, click here.